MCID: BRC094
MIFTS: 18

Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

MalaCards integrated aliases for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism:

Name: Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 56 71
Oculoosteocutaneous Syndrome 56 58
Brachymetapody Anodontia Hypotrichosis Albinoidism 52
Anodontia-Hypotrichosis Syndrome 56

Characteristics:

Orphanet epidemiological data:

58
oculoosteocutaneous syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
brachymetapody-anodontia-hypotrichosis-albinoidism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 211370
ICD10 via Orphanet 33 Q87.5
UMLS via Orphanet 72 C1859385
Orphanet 58 ORPHA2713
MedGen 41 C1859385
UMLS 71 C1859385

Summaries for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

MalaCards based summary : Brachymetapody-Anodontia-Hypotrichosis-Albinoidism, is also known as oculoosteocutaneous syndrome, and has symptoms including irregular nystagmus Affiliated tissues include eye, skin and breast, and related phenotypes are cataract and short stature

More information from OMIM: 211370

Related Diseases for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Symptoms & Phenotypes for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Human phenotypes related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 short stature 31 HP:0004322
3 opacification of the corneal stroma 31 HP:0007759
4 nystagmus 31 HP:0000639
5 strabismus 31 HP:0000486
6 low-set ears 31 HP:0000369
7 myopia 31 HP:0000545
8 short toe 31 HP:0001831
9 hypoplasia of the maxilla 31 HP:0000327
10 downslanted palpebral fissures 31 HP:0000494
11 labial hypoplasia 31 HP:0000066
12 fine hair 31 HP:0002213
13 distichiasis 31 HP:0009743
14 short metacarpal 31 HP:0010049
15 hypoplastic nipples 31 HP:0002557
16 sparse hair 31 HP:0008070
17 sparse eyelashes 31 HP:0000653
18 short phalanx of finger 31 HP:0009803
19 absent axillary hair 31 HP:0002221
20 absent pubic hair 31 HP:0002555
21 short metatarsal 31 HP:0010743
22 anodontia 31 HP:0000674

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
strabismus
myopia
distichiasis
irregular nystagmus
more
Head And Neck Ears:
low-set ears

Skin Nails Hair Hair:
absent axillary hair
absent pubic hair
thin eyelashes
thin hair

Skeletal Skull:
hypoplastic maxilla

Skeletal Hands:
short fingers
short metacarpals (3rd-5th)

Skin Nails Hair Skin:
albinoidism

Growth Height:
short stature

Chest Breasts:
hypoplastic nipples
small breast
unpigmented areola

Head And Neck Teeth:
anodontia

Skeletal Feet:
short metatarsals
short toes (2nd-5th)

Genitourinary External Genitalia Female:
hypoplastic labia

Clinical features from OMIM:

211370

UMLS symptoms related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism:


irregular nystagmus

Drugs & Therapeutics for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Search Clinical Trials , NIH Clinical Center for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Genetic Tests for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Anatomical Context for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

MalaCards organs/tissues related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism:

40
Eye, Skin, Breast, Bone

Publications for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Articles related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism:

# Title Authors PMID Year
1
Three siblings with similar anomalies in the eyes, bones and skin. 56
4974459 1968

Variations for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Expression for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Search GEO for disease gene expression data for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism.

Pathways for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

GO Terms for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Sources for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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